severe combined immunodeficiency

Summary

Summary: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human SCID.

Top Publications

  1. ncbi LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
    S Hacein-Bey-Abina
    INSERM Unit 429, Cedex 15, France
    Science 302:415-9. 2003
  2. ncbi Highly efficient endogenous human gene correction using designed zinc-finger nucleases
    Fyodor D Urnov
    Sangamo BioSciences, Inc, Pt Richmond Tech Center 501, Canal Blvd, Suite A100 Richmond, California 94804, USA
    Nature 435:646-51. 2005
  3. pmc Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases
    Tomoji Mashimo
    Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    PLoS ONE 5:e8870. 2010
  4. pmc Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
    Salima Hacein-Bey-Abina
    Department of Biotherapy, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris AP HP, Universite Rene Descartes, Paris, France
    J Clin Invest 118:3132-42. 2008
  5. pmc Efficacy of gene therapy for X-linked severe combined immunodeficiency
    Salima Hacein-Bey-Abina
    Department of Biotherapy, Necker Enfants Malades Hospital, Paris, France
    N Engl J Med 363:355-64. 2010
  6. pmc Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
    Steven J Howe
    Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, University College London, London, United Kingdom
    J Clin Invest 118:3143-50. 2008
  7. ncbi Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
    A Puel
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892 1674, USA
    Nat Genet 20:394-7. 1998
  8. doi Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
    Raz Somech
    Cancer Research Center, Safra Children s Hospital, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv, Israel
    J Allergy Clin Immunol 124:793-800. 2009
  9. ncbi Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation
    T Blunt
    Wellcome Cancer Research Campaign Institute, Cambridge University, England
    Cell 80:813-23. 1995
  10. ncbi Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99
    Corinne Antoine
    Service de Biostatistique et Service d Immunologie et d Hématologie Pédiatrique, Hopital Necker Enfants Malades, Paris, France
    Lancet 361:553-60. 2003

Research Grants

Detail Information

Publications257 found, 100 shown here

  1. ncbi LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
    S Hacein-Bey-Abina
    INSERM Unit 429, Cedex 15, France
    Science 302:415-9. 2003
    We have previously shown correction of X-linked severe combined immunodeficiency [SCID-X1, also known as gamma chain (gamma(c)) deficiency] in 9 out of 10 patients by retrovirus-mediated gamma(c) gene transfer into autologous CD34 bone ..
  2. ncbi Highly efficient endogenous human gene correction using designed zinc-finger nucleases
    Fyodor D Urnov
    Sangamo BioSciences, Inc, Pt Richmond Tech Center 501, Canal Blvd, Suite A100 Richmond, California 94804, USA
    Nature 435:646-51. 2005
    ..We observe comparably high frequencies in human T cells, raising the possibility of strategies based on zinc-finger nucleases for the treatment of disease...
  3. pmc Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases
    Tomoji Mashimo
    Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    PLoS ONE 5:e8870. 2010
    ..Recently, zinc-finger nucleases (ZFNs) were successfully used to create genome-specific double-stranded breaks and thereby induce targeted gene mutations in a wide variety of organisms including plants, drosophila, zebrafish, etc...
  4. pmc Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
    Salima Hacein-Bey-Abina
    Department of Biotherapy, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris AP HP, Universite Rene Descartes, Paris, France
    J Clin Invest 118:3132-42. 2008
    ..Successful chemotherapy was associated with restoration of polyclonal transduced T cell populations. As a result, the treated patients continued to benefit from therapeutic gene transfer...
  5. pmc Efficacy of gene therapy for X-linked severe combined immunodeficiency
    Salima Hacein-Bey-Abina
    Department of Biotherapy, Necker Enfants Malades Hospital, Paris, France
    N Engl J Med 363:355-64. 2010
    ..We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine receptor common gamma chain.
  6. pmc Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
    Steven J Howe
    Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, University College London, London, United Kingdom
    J Clin Invest 118:3143-50. 2008
    ....
  7. ncbi Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
    A Puel
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892 1674, USA
    Nat Genet 20:394-7. 1998
    b>Severe combined immunodeficiency (SCID) is caused by multiple genetic defects. The most common form of SCID, X-linked SCID (XSCID), results from mutations in IL2RG (ref...
  8. doi Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
    Raz Somech
    Cancer Research Center, Safra Children s Hospital, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv, Israel
    J Allergy Clin Immunol 124:793-800. 2009
    ..Dysregulations of the central and peripheral immune tolerance, mediated by the protein autoimmune regulator (AIRE) and regulatory T cells, respectively, were proposed as possible mechanisms of this aberrant inflammatory process...
  9. ncbi Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation
    T Blunt
    Wellcome Cancer Research Campaign Institute, Cambridge University, England
    Cell 80:813-23. 1995
    ..As DNA-PK binds to DNA ends and is activated by these structures, our findings provide novel insights into V(D)J recombination and DNA repair processes...
  10. ncbi Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99
    Corinne Antoine
    Service de Biostatistique et Service d Immunologie et d Hématologie Pédiatrique, Hopital Necker Enfants Malades, Paris, France
    Lancet 361:553-60. 2003
    ..This European report focuses on the long-term results of such procedures done between 1968 and December, 1999, for primary immunodeficiencies...
  11. ncbi Severe combined immunodeficiency. A model disease for molecular immunology and therapy
    Alain Fischer
    INSERM U429, Hopital Necker Enfants Malades, Paris, France
    Immunol Rev 203:98-109. 2005
    ..SCID is thus a disease model for experimental therapy in the hematopoietic system...
  12. ncbi Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
    Salima Hacein-Bey-Abina
    Laboratoire INSERM, Hopital Necker Enfants Malades, Paris, France
    N Engl J Med 346:1185-93. 2002
    X-linked severe combined immunodeficiency due to a mutation in the gene encoding the common gamma (gamma(c)) chain is a lethal condition that can be cured by allogeneic stem-cell transplantation...
  13. doi Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
    Stephan Borte
    Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
    Blood 119:2552-5. 2012
    b>Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections...
  14. ncbi Long-term therapy with aerosolized ribavirin for parainfluenza 3 virus respiratory tract infection in an infant with severe combined immunodeficiency
    Jitka Stankova
    Division of Hematology and Oncology, Montreal Children s Hospital, McGill University Health Centre, Montreal, QC, Canada
    Pediatr Transplant 11:209-13. 2007
    We report the case of an infant with severe combined immunodeficiency who was presented with PIV3 infection...
  15. doi Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy
    Barbara Cassani
    San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Milan, Italy
    Blood 114:3546-56. 2009
    ..We evaluated the genomic impact of RV integration in T lymphocytes from adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) patients 10 to 30 months after infusion of autologous, genetically corrected CD34(+) cells...
  16. pmc Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
    Chantal Lagresle-Peyrou
    Research Laboratory on Normal and Pathologic Development of the Immune System, U768, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
    Nat Genet 41:106-11. 2009
    Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation...
  17. doi More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2
    Tim Niehues
    HELIOS Klinikum Krefeld, Center for Child and Adolescent Health, Krefeld, Germany
    Clin Immunol 135:183-92. 2010
    ..Thorough assessment and interpretation of clinical and immunological findings will guide treatment modalities as intense as hematopoietic stem cell transplantation...
  18. ncbi Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
    Dietke Buck
    INSERM, Hopital Necker Enfants Malades, U429, Unité Développement Normal et Pathologique du Système Immunitaire, Paris, France
    Eur J Immunol 36:224-35. 2006
    ..These observations contrast with the severity of the clinical immunodeficiency, suggesting that Lig4 may have additional critical roles in lymphocyte survival beyond V(D)J recombination...
  19. pmc How I treat ADA deficiency
    H Bobby Gaspar
    Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, United Kingdom
    Blood 114:3524-32. 2009
    Adenosine deaminase deficiency is a disorder of purine metabolism leading to severe combined immunodeficiency (ADA-SCID). Without treatment, the condition is fatal and requires early intervention...
  20. ncbi A critical role for IL-21 in regulating immunoglobulin production
    Katsutoshi Ozaki
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1674, USA
    Science 298:1630-4. 2002
    ..all share the common cytokine receptor gamma chain, gammac, which is mutated in humans with X-linked severe combined immunodeficiency disease (XSCID)...
  21. doi Matched unrelated bone marrow transplant for T+ combined immunodeficiency
    C M Roifman
    Division of Immunology and Allergy, The Hospital for Sick Children, Ontario, Canada ickkids ca
    Bone Marrow Transplant 41:947-52. 2008
    ..We have shown here that matched unrelated donor BMT is highly effective in curing patients with T+ CID. This mode of treatment should be preferred for patients with T+ CID when a related identical donor is not available...
  22. ncbi Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome
    U Tabori
    Pediatric Hematology Oncology, Safra Children s Hospital, Sheba Medical Center, Tel Hashomer, Israel
    Clin Genet 65:322-6. 2004
    ..the recombination activating genes RAG1 and RAG2 are involved in each of the two different types of severe combined immunodeficiency (SCID) syndromes: T-B- SCID and Omenn's syndrome (OS)...
  23. pmc A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories
    Zheng Xiao
    Pediatric Bone Marrow Transplant Division, University of California San Francisco Children s Hospital, San Francisco, CA 94143 1278, USA
    Eur J Hum Genet 17:205-12. 2009
    ..Defective NHEJ and subsequent failure of V(D)J recombination leads to severe combined immunodeficiency disease (SCID)...
  24. doi Il2rg gene-targeted severe combined immunodeficiency pigs
    Shunichi Suzuki
    Transgenic Animal Research Center, National Institute of Agrobiological Sciences, Tsukuba, Ibaraki 305 0901, Japan
    Cell Stem Cell 10:753-8. 2012
    A porcine model of severe combined immunodeficiency (SCID) promises to facilitate human cancer studies, the humanization of tissue for xenotransplantation, and the evaluation of stem cells for clinical therapy, but SCID pigs have not been ..
  25. pmc Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans
    Fabio Candotti
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD, USA
    Blood 120:3635-46. 2012
    We conducted a gene therapy trial in 10 patients with adenosine deaminase (ADA)-deficient severe combined immunodeficiency using 2 slightly different retroviral vectors for the transduction of patients' bone marrow CD34(+) cells...
  26. ncbi A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623, Pecs, Hungary
    J Hum Genet 51:495-7. 2006
    b>Severe combined immunodeficiency (SCID) represents a genetically heterogeneous group of primary immunodeficiency disorders...
  27. ncbi Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death
    A A Migchielsen
    Laboratory for Molecular Carcinogenesis, Sylvius Laboratories, Leiden University, The Netherlands
    Nat Genet 10:279-87. 1995
    ..In humans, absence of ADA causes severe combined immunodeficiency. In contrast, ADA-deficient mice die perinatally with marked liver-cell degeneration, but lack ..
  28. doi FOXN1 mutation abrogates prenatal T-cell development in humans
    I Vigliano
    Department of Pediatrics, Federico II University, Via Pansini, 5, Naples 80131, Italy
    J Med Genet 48:413-6. 2011
    ....
  29. pmc The long quest for neonatal screening for severe combined immunodeficiency
    Rebecca H Buckley
    Departments of Pediatrics and Immunology, Duke University Medical Center, Durham, NC 27710, USA
    J Allergy Clin Immunol 129:597-604; quiz 605-6. 2012
    Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving ..
  30. pmc Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles
    Jennifer M Puck
    Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 129:607-16. 2012
    The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, ..
  31. pmc Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone
    Suk See De Ravin
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases NIAID, Bethesda, MD 20892, USA
    J Pediatr Endocrinol Metab 21:1057-63. 2008
    X-linked severe combined immunodeficiency (XSCID) results from defects in the common cytokine receptor gamma chain (gamma c) required for signaling by receptors for interleukin (IL)-2, -4, -7, -9, -15, and -21...
  32. ncbi Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency
    Claudia A Montiel-Equihua
    Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, 30, Guilford Street, London WC1N 1EH, UK
    Curr Gene Ther 12:57-65. 2012
    The severe combined immunodeficiency caused by the absence of adenosine deaminase (SCID-ADA) was the first monogenic disorder for which gene therapy was developed...
  33. pmc A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
    N Nicolas
    Institut National de la Santé et de la Recherche Médicale U429, Developpement Normal et Pathologique du Systeme Immunitaire, Hopital Necker Enfants Malades, 75015 Paris, France
    J Exp Med 188:627-34. 1998
    ..of in vitro mutants (Chinese hamster ovary cells) and in vivo situations of murine and equine severe combined immunodeficiency (scid)...
  34. doi Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
    Ulrich Pannicke
    Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
    Nat Genet 41:101-5. 2009
    ..These observations suggest that reticular dysgenesis is the first example of a human immunodeficiency syndrome that is causally linked to energy metabolism and that can therefore be classified as a mitochondriopathy...
  35. doi Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome
    Line Ohm-Laursen
    Department of Clinical Immunology, Odense University Hospital, 5000 Odense, Denmark
    J Clin Immunol 28:588-92. 2008
    ..A 2.5-month old boy presented with recurrent wheezing, protracted diarrhea, erythrodermia, and failure to thrive...
  36. pmc Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes
    Rebecca H Buckley
    Departments of Pediatrics and Immunology, Duke University Medical Center, Box 2898 or 363 Jones Building, Durham, NC 27710, USA
    Immunol Res 49:25-43. 2011
    b>Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T- and B-cell function and, in some types, also of NK cells and function...
  37. ncbi B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Haematologica 91:1705-9. 2006
    ..Apparently, occupation of the precursor-B-cell niches is a potential dominant factor influencing repopulation of a functional B-cell compartment in B-negative SCID...
  38. doi Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency
    Francesca Ferrua
    San Raffaele Telethon Institute for Gene Therapy, Milan, Italy
    Curr Opin Allergy Clin Immunol 10:551-6. 2010
    The present review describes the recent progress in the treatment of adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) using autologous gene-modified hematopoietic stem cells, comparing immune reconstitution with ..
  39. doi Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation
    Alessandra Sottini
    Diagnostics Department, Spedali Civili di Brescia, Brescia, Italy
    Clin Immunol 136:217-27. 2010
    ..In other patients, TRECs and KRECs number remained very low for the entire period of study...
  40. ncbi Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement
    Alessandro Aiuti
    Nat Med 8:423-5. 2002
  41. ncbi A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency
    Salima Hacein-Bey-Abina
    N Engl J Med 348:255-6. 2003
  42. doi Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards
    Yoichi Morinishi
    Department of Pediatrics, National Defense Medical College, Saitama, Japan
    J Pediatr 155:829-33. 2009
    To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID).
  43. doi High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening
    Jacalyn L Gerstel-Thompson
    New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA 02130, USA
    Clin Chem 56:1466-74. 2010
    ..detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined immunodeficiency (SCID) in infants...
  44. ncbi Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
    Caroline Laffort
    Unite d immunologie, d Hématologie, et de Rhumatologie Pédiatrique, Paris, France
    Lancet 363:2051-4. 2004
    ..That genetic causes are the only predisposing factor to be identified for severe combined immune deficiency, suggests that natural-killer cells or gammac/JAK-3-dependent signalling in keratinocytes could have a role in anti-HPV immunity...
  45. ncbi Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies
    C Diaz de Heredia
    Department of Paediatric Haematology and Oncology, Hospital Vall d Hebron, Barcelona, Spain
    Bone Marrow Transplant 41:627-33. 2008
    ..No patient is intravenous immunoglobulin (IVIg) replacement therapy-dependent. UCB transplantation is a valid option for children with PID who lack an HLA-identical sibling donor...
  46. doi Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
    Lucinda Brown
    Department of Clinical Immunology, Great Ormond Street Hospital National Health Service Trust, London, UK
    Blood 117:3243-6. 2011
    b>Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation...
  47. ncbi Early determinants of long-term T-cell reconstitution after hematopoietic stem cell transplantation for severe combined immunodeficiency
    Jose A Borghans
    Department of Immunology, University Medical Center Utrecht, The Netherlands
    Blood 108:763-9. 2006
    The immune system of patients with severe combined immunodeficiency (SCID) reconstitutes to a large extent during the first years after hematopoietic stem cell transplantation (HSCT)...
  48. pmc Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients
    Barbara Cassani
    San Raffaele Telethon Institute for Gene Therapy, Milan, Italy
    Blood 111:4209-19. 2008
    Mutations in the adenosine deaminase (ADA) gene are responsible for a form of severe combined immunodeficiency (SCID) caused by the lymphotoxic accumulation of ADA substrates, adenosine and 2'-deoxy-adenosine...
  49. pmc Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant
    Isabella Derler
    Institute for Biophysics, University of Linz, Altenbergerstrasse 69, 4040 Linz, Austria
    J Biol Chem 284:15903-15. 2009
    ..In conclusion, the increase in hydrophobicity at the N terminus/membrane interface represents the major cause for yielding non-functional ORAI1 channels...
  50. doi Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency
    Ellen A Lipstein
    Center for Child and Adolescent Health Policy, Mass General Hospital for Children, Boston, Massachusetts, USA
    Pediatrics 125:e1226-35. 2010
    b>Severe combined immunodeficiency (SCID) is a group of disorders that leads to early childhood death as a result of severe infections. Recent research has addressed potential newborn screening for SCID.
  51. ncbi Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
    Silvia Giliani
    Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy
    Immunol Rev 203:110-26. 2005
    Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the alpha chain of the interleukin-7 receptor (IL-7Ralpha) has shown important differences between mice and humans in the role played by ..
  52. ncbi Development of population-based newborn screening for severe combined immunodeficiency
    Kee Chan
    National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    J Allergy Clin Immunol 115:391-8. 2005
    b>Severe combined immunodeficiency (SCID) is a treatable, inherited lack of cellular and humoral immunity caused by diverse mutations in several different genes and leading to death in infancy unless immune reconstitution is provided...
  53. pmc A self-inactivating lentiviral vector for SCID-X1 gene therapy that does not activate LMO2 expression in human T cells
    Sheng Zhou
    Division of Experimental Hematology, Department of Hematology, St Jude Children s Research Hospital, 262 Danny Thomas Pl, Memphis, TN 38105, USA
    Blood 116:900-8. 2010
    To develop safer and more effective vectors for gene therapy of X-linked severe combined immunodeficiency (SCID-X1), we have evaluated new self-inactivating lentiviral vectors based on the HIV virus...
  54. doi Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency
    Benedicte Neven
    Unité d Immuno Hématologie et Rhumatologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
    Blood 113:4114-24. 2009
    Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative treatment for severe combined immunodeficiency (SCID)...
  55. pmc Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
    Arturo Borzutzky
    Division of Immunology, Children s Hospital Boston, Boston, MA, USA
    Clin Immunol 133:287-94. 2009
    ..PCFT mutations should be considered in infants with SCID-like phenotype, as the immunodeficiency is reversible with parenteral folinic acid repletion...
  56. ncbi Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain
    K Ohbo
    Department of Microbiology, Tohoku University School of Medicine, Sendai, Japan
    Blood 87:956-67. 1996
    ..Mutations of the human gamma chain cause the X-linked severe combined immunodeficiency (XSCID), showing that T and natural killer cells absolutely require the gamma chain for their ..
  57. doi Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency
    Mahnaz Sadeghi-Shabestari
    Division of Pediatric Immunology and Allergy, Children s Hospital, Tabriz University Medical Sciences, Tabriz, Iran
    Int J Infect Dis 13:e420-3. 2009
    ..This study was performed to determine the underlying defects in patients with BCG-osis...
  58. doi DNA-PKcs deficiency in human: long predicted, finally found
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
    Curr Opin Allergy Clin Immunol 9:503-9. 2009
    ..and molecular findings of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) as a new candidate gene for radiosensitive T-B-severe combined immunodeficiency (SCID), which has implications for the diagnostic strategy of T-B-SCID.
  59. doi Development of a routine newborn screening protocol for severe combined immunodeficiency
    Mei W Baker
    Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, Wis 53706, USA
    J Allergy Clin Immunol 124:522-7. 2009
    b>Severe combined immunodeficiency (SCID) is characterized by the absence of functional T cells and B cells. Without early diagnosis and treatment, infants with SCID die from severe infections within the first year of life.
  60. ncbi Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients
    Fabio Malacarne
    Department of Laboratory Diagnostics, Terzo Servizio Analisi, Spedali Civili of Brescia, Brescia, Italy
    Eur J Immunol 35:3376-86. 2005
    Impairment of purine metabolism due to adenosine deaminase (ADA) deficiency is associated with a severe combined immunodeficiency (SCID)...
  61. ncbi DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect
    C U Kirchgessner
    Department of Radiation Oncology, Stanford University School of Medicine, CA 94305
    Science 267:1178-83. 1995
    ..Chromosomal fragments expressing p350 complement the SCID phenotype, and p350 protein levels are greatly reduced in cells derived from SCID mice compared to cells from wild-type mice...
  62. pmc A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    Jean Pierre de Villartay
    Developpement Normal et Pathologique du Systeme Immunitaire, INSERM U429, Paris, France
    J Clin Invest 115:3291-9. 2005
    ..This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype...
  63. doi FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
    S Amorosi
    Department of Pediatrics, Federico II University of Naples, Naples, Italy
    Clin Genet 73:380-4. 2008
    ..Alterations of the FOXN1 gene in both mice and humans result in a severe combined immunodeficiency caused by an intrinsic defect of the thymus associated with congenital alopecia (Nude/severe combined ..
  64. ncbi Population-based newborn screening for severe combined immunodeficiency: steps toward implementation
    Jennifer M Puck
    Department of Pediatrics, University of California, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 120:760-8. 2007
    ....
  65. ncbi Purine nucleoside phosphorylase deficiency
    M L Markert
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710
    Immunodefic Rev 3:45-81. 1991
    ..PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with severe combined immunodeficiency. Thirty-three patients have been reported...
  66. ncbi A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation
    E K Shin
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235, USA
    J Immunol 158:3565-9. 1997
    ....
  67. ncbi Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
    P Macchi
    Istituto di Tecnologie Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Milano, Italy
    Nature 377:65-8. 1995
    ..Both mutations resulted in markedly reduced levels of Jak-3. These findings show that abnormalities in the Jak/STAT signalling pathway can account for SCID in humans...
  68. ncbi Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency
    K C Gilmour
    Molecular Immunology Unit, Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, UK
    Blood 98:877-9. 2001
    ..on cytokine signaling, and defects in cytokine receptor complex subunits have been shown to result in severe combined immunodeficiency (SCID) syndromes in humans and in murine models...
  69. ncbi Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
    Rebecca H Buckley
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Annu Rev Immunol 22:625-55. 2004
    Mutations in nine different genes have been found to cause the human severe combined immunodeficiency syndrome...
  70. ncbi RAG mutations in human B cell-negative SCID
    K Schwarz
    Section of Molecular Biology, University of Ulm, D 89070 Ulm, Germany
    Science 274:97-9. 1996
    Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B- SCID)...
  71. ncbi Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
    C Kung
    Howard Hughes Medical Institute, St Louis, Missouri 63110, USA
    Nat Med 6:343-5. 2000
    ..The patient presented at 2 months of age with severe combined immunodeficiency disease...
  72. ncbi Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity
    G E Taccioli
    Department of Microbiology, Boston University School of Medicine, Massachusetts 02118, USA
    Immunity 9:355-66. 1998
    ..This suggests that the Scid mice may not represent a null phenotype and may retain some residual DNA-PKcs function...
  73. ncbi Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
    Manfred Hönig
    Department of Pediatrics, University of Ulm, University Clinic for Child and Adolescent Medicine, Eythstrasse 24, 89075 Ulm, Germany
    Blood 109:3595-602. 2007
    ..ADA) deficiency is a systemic metabolic disease that causes an autosomal recessive variant of severe combined immunodeficiency (SCID) and less consistently other complications including neurologic abnormalities...
  74. ncbi Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency
    M R Blackburn
    Verna and Marrs McLean Department of Biochemistry, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 273:5093-100. 1998
    ..ADA-deficient mice also exhibited severe pulmonary insufficiency, bone abnormalities, and kidney pathogenesis. These mice have provided in vivo information into the metabolic basis for the immune phenotype associated with ADA deficiency...
  75. pmc Radiosensitive severe combined immunodeficiency disease
    Christopher C Dvorak
    Division of Pediatric Blood and Marrow Transplantation, University of California, San Francisco, 505 Parnassus Avenue, M 659, San Francisco, CA 94143 1278, USA
    Immunol Allergy Clin North Am 30:125-42. 2010
    ..Inherited defects in components of the nonhomologous end-joining DNA repair mechanism produce a T-B-NK+ severe combined immunodeficiency disease (SCID) characterized by heightened sensitivity to ionizing radiation...
  76. doi Gene therapy for immunodeficiency due to adenosine deaminase deficiency
    Alessandro Aiuti
    San Raffaele Telethon Institute for Gene Therapy, Milan, Italy
    N Engl J Med 360:447-58. 2009
    We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency.
  77. doi Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID
    Neslihan Edeer Karaca
    Department of Pediatrics, Faculty of Medicine, Ege University, 35100, Bornova, Izmir, Turkey
    Clin Exp Med 9:339-42. 2009
    ....
  78. doi ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
    Aisha V Sauer
    San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Milan, Italy
    Blood 114:3216-26. 2009
    ..Remarkably, untreated ADA-severe combined immunodeficiency patients showed a similar imbalance in RANKL/osteoprotegerin levels alongside severe growth ..
  79. ncbi Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation
    C Pignata
    Department of Pediatrics and Cellular and Molecular Biology and Pathology, Federico II University, Naples, Italy
    Blood 97:880-5. 2001
    Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of the winged-helix-nude (WHN) gene, which is expressed in the thymus but not in the hematopoietic lineage...
  80. ncbi Differential biological role of CD3 chains revealed by human immunodeficiencies
    María J Recio
    Inmunologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    J Immunol 178:2556-64. 2007
    ..We propose a CD3delta >> CD3gamma hierarchy for the relative impact of their absence on the signaling for T cell production in humans...
  81. ncbi Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency
    Harjit K Dadi
    Divisions of Immunology and Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    N Engl J Med 349:1821-8. 2003
  82. ncbi Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
    Laurie A Myers
    Duke University Medical Center, Durham, NC 27710, USA
    Blood 99:872-8. 2002
    All genetic types of severe combined immunodeficiency (SCID) can be cured by stem cell transplantation from related donors...
  83. pmc Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain
    J P DiSanto
    Institut National de la Sante et de la Recherche Medicale, Unité 132, Hopital Necker Enfants Malades, Paris, France
    Proc Natl Acad Sci U S A 92:377-81. 1995
    ..Thus, IL-2R gamma facilitates mainstream B- and T-cell generation and function and also appears to be essential for NK-cell development...
  84. doi The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency
    Federico Serana
    Department of Biomedical Science and Biotechnology, University of Brescia, Italy
    J Immunol 185:7713-22. 2010
    ....
  85. doi Progress and prospects: gene therapy for inherited immunodeficiencies
    W Qasim
    Molecular Immunology Unit, UCL Institute of Child Health, London, UK
    Gene Ther 16:1285-91. 2009
    ..For patients with specific disorders (severe combined immunodeficiency (SCID)-X1, adenosine deaminase deficiency (ADA)-SCID, X-chronic granulomatous disease (CGD) and ..
  86. ncbi T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation
    Marcella Sarzotti
    Department of Immunology, Medicine, and Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Immunol 170:2711-8. 2003
    ..The TCR diversity positively correlates in these patients with TREC levels...
  87. doi Vaccine-acquired rotavirus in infants with severe combined immunodeficiency
    Niraj C Patel
    Department of Pediatrics, Section of Allergy and Immunology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    N Engl J Med 362:314-9. 2010
    ..1 month after their first or second rotavirus immunization and subsequently received a diagnosis of severe combined immunodeficiency. Rotavirus was detected, by means of reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay, ..
  88. doi Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models
    Joshua D Milner
    Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
    J Clin Immunol 28:S29-33. 2008
    ..b>Severe combined immunodeficiency (SCID) is the most severe form of immunodeficiency and is also on occasion associated with autoimmune ..
  89. pmc Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management
    Linda M Griffith
    Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    J Allergy Clin Immunol 124:1152-60.e12. 2009
    ..with PIDs, we present expert guidance for (1) PID diagnoses that are indications for HCT, including severe combined immunodeficiency disease (SCID), combined immunodeficiency disease, and other non-SCID diseases; (2) the critical ..
  90. pmc Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy
    Alessandro Aiuti
    San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Milan, Italy
    J Clin Invest 117:2233-40. 2007
    ..These data have important implications for the biology of retroviral vectors, the dynamics of genetically modified HSCs, and the safety of gene therapy...
  91. ncbi SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency
    K Meek
    College of Veterinary Medicine and Department of Veterinary Pathology, Michigan State University, East Lansing, MI 48824, USA
    J Immunol 167:2142-50. 2001
    ....
  92. ncbi Advances in the understanding and treatment of human severe combined immunodeficiency
    R H Buckley
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Immunol Res 22:237-51. 2000
    Human severe combined immunodeficiency (SCID) can result from mutations in any one of at least seven different genes, including those for adenosine deaminase, the common cytokine receptor gamma chain, Janus kinase 3, IL-7 receptor alpha ..
  93. ncbi Intrinsic defects of B cell function in X-linked severe combined immunodeficiency
    H White
    Molecular Immunology Unit, Institute of Child Health, University College London, GB
    Eur J Immunol 30:732-7. 2000
    ..These studies imply that effective humoral reconstitution can only be achieved by the engraftment of normal donor B cells...
  94. ncbi Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review
    Lisa Kalman
    Centers for Disease Control and Prevention, Newborn Screening Quality Assurance Program, Office of Genomics and Disease Prevention, Atlanta, Georgia, USA
    Genet Med 6:16-26. 2004
    b>Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and ..
  95. pmc Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program
    Mei Wang Baker
    Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA
    Public Health Rep 125:88-95. 2010
    b>Severe combined immunodeficiency (SCID) is the result of genetic defects that impair normal T-cell development. SCID babies typically appear normal at birth, but acquire multiple life-threatening infections within a few months...
  96. doi Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
    Anne Marie Comeau
    New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA
    J Inherit Metab Dis 33:S273-81. 2010
    b>Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel ..
  97. doi Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
    Tuba Turul
    Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Eur J Pediatr 168:87-93. 2009
    ....
  98. pmc Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis
    Mary Dell Railey
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Pediatr 155:834-840.e1. 2009
    To determine long-term health benefits of nonablative bone marrow transplantation for severe combined immunodeficiency (SCID), we investigated our cohort of 161 related donor bone marrow-transplanted patients with SCID...
  99. ncbi Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency
    Mary A Slatter
    Department of Paediatric Immunology, Newcastle upon Tyne Hospitals Foundation Trust, Newcastle upon Tyne, United Kingdom
    J Allergy Clin Immunol 121:361-7. 2008
    ..T cell-depleted haploidentical transplantations are successful if there is no HLA-identical donor. Methods to remove T lymphocytes include addition of anti-CD52 antibodies and CD34(+) HSC selection...
  100. doi Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray
    Tonya Lebet
    Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, California 94143 0519, USA
    Genet Med 10:575-85. 2008
    Mutation diagnosis of severe combined immunodeficiency is challenging because of the multiplicity of disease genes and large number of disease-causing mutations, including unique ones that continue to be found...
  101. doi Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency
    Evelina Mazzolari
    Divisione di Emato Oncologia Pediatrica, Ospedale dei Bambini, Spedali Civili, Brescia, Italy
    Immunol Res 44:4-17. 2009
    ..Persistence of a low number of circulating naive T cells and long-term requirement for intravenous immunoglobulin were associated with a higher incidence of clinical events...

Research Grants74

  1. Varicella-Zoster Virus: T Cell/Skin Tropism & Immunity
    Ann M Arvin; Fiscal Year: 2010
    ..by investigating VZV infection of human skin, T cell and dorsal root ganglia xenografts in the severe combined immunodeficiency (SCID) mouse model...
  2. MECHANISMS OF ALLOGENEIC STEM CELL EDUCATION IN SCID
    Rebecca H Buckley; Fiscal Year: 2010
    ..immune reconstitution (16 HLA-identical, investigate identical in patients with severe combined immunodeficiency (SCID) given transplants of rigorously T cell-depleted HLA- The overall goal of the proposed research ..
  3. Molecular Recognition Studies of the Interleukin-7 Pathway
    Scott Walsh; Fiscal Year: 2009
    ..Under- and over-stimulation of the IL-7 pathway has been implicated in the pathogenesis of a form of severe combined immunodeficiency, autoimmune conditions, coronary artery disease, and several cancers...
  4. Molecular Recognition Studies of the Interleukin-7 Pathway
    SCOTT T WALSH; Fiscal Year: 2010
    ..Under- and over-stimulation of the IL-7 pathway has been implicated in the pathogenesis of a form of severe combined immunodeficiency, autoimmune conditions, coronary artery disease, and several cancers...
  5. METVAN: A Novel Anticancer Agent
    OSMOND D CRUZ; Fiscal Year: 2003
    ..exhibits significant antitumor activity, delays tumor progression and prolongs survival time in severe combined immunodeficiency (SCID) mouse xenograft models of human malignant glioblastoma and breast cancer...
  6. Gene Therapy for Purine Nucleoside Phosphorylase Deficiency (PNP)
    Kevin Baker; Fiscal Year: 2007
    ..The first was a French trial of retroviral gene therapy for X-linked severe combined immunodeficiency (SCID), in which bone marrow cells from children deficient in the common gamma-chain for several ..
  7. Adenosine Deaminase, Adenosine Signaling and Disease
    RODNEY KELLEMS; Fiscal Year: 2006
    ..However, despite many years of investigation the molecular basis of the severe combined immunodeficiency resulting from ADA deficiency is not understood...
  8. INTERLEUKIN 2 RECEPTOR AND T LYMPHOCYTE GROWTH
    THOMAS MALEK; Fiscal Year: 1999
    ..development as mutations in the human gamma-c gene has been causally associated with X- linked severe combined immunodeficiency disease (SCID)...
  9. Vector Insertion and Mutagenesis in Human Hematopoiesis
    Christof von Kalle; Fiscal Year: 2007
    ..has been used to correct genetic defects most successfully in patients with potentially fatal human severe combined immunodeficiency disease (SCID)...
  10. ADENOSINE DEAMINASE DEFICIENCY
    Linda Thompson; Fiscal Year: 2007
    Mutations in the gene for adenosine deaminase (ADA) cause severe combined immunodeficiency in humans. ADA-deficient patients exhibit a profound lymphopenia and are susceptible to a wide array of infectious agents...
  11. Strategies Against HPV Related Genital Diseases in Women
    Bradley Monk; Fiscal Year: 2006
    ..D., Dr. Monk will evaluate co-carcinogens and anti-viral agents in a recently described severe combined immunodeficiency mouse model using implanted human HPV infected epithelium, cervical intraepithelial neoplasia (CIN)...